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Laboratory diagnostic of multiple sclerosis

Iris Dekker, Mike P Wattjes
Multiple sclerosis (MS) is a disabling disease, with the first symptoms mostly appearing early in life. In addition to the clinical and laboratory findings, imaging has become increasingly important for diagnosis, prognosis, and monitoring. Because of its importance for these purposes, a high level of knowledge of imaging MS pathology and a standardization of the imaging acquisition, interpretation, and reporting is necessary. Here we will describe the MR imaging characteristics of MS pathology, the current imaging protocols, diagnostic criteria, and the differential diagnosis of MS...
May 2017: Neuroimaging Clinics of North America
S Jarius, P Eichhorn, D Franciotta, H F Petereit, G Akman-Demir, M Wick, B Wildemann
BACKGROUND: It has long been known that the majority of patients with multiple sclerosis (MS) display an intrathecal, polyspecific humoral immune response to a broad panel of neurotropic viruses. This response has measles virus, rubella virus and varicella zoster virus as its most frequent constituents and is thus referred to as the MRZ reaction (MRZR). OBJECTIVE: Re-evaluation of the specificity of MRZR as a marker of MS. METHODS: Structured review of the existing English-, German- and Spanish-language literature on MRZR testing, with evaluation of MRZR in a cohort of 43 unselected patients with MS and other neurological diseases as a proof of principle...
March 2017: Journal of Neurology
Matteo Gastaldi, Elisabetta Zardini, Diego Franciotta
Intrathecal B-lymphocyte activation is a hallmark of multiple sclerosis (MS), a multi-factorial inflammatory-demyelinating disease of the central nervous system. Such activation has a counterpart in the cerebrospinal fluid (CSF) oligoclonal IgG bands (OCB), whose diagnostic role in MS has been downgraded within the current McDonald's criteria. With a theoretico-practical approach, the authors review the physiopathological basis of the CSF dynamics, and the state-of-the-art of routine CSF analysis and CSF biomarkers in MS...
January 2017: Expert Review of Molecular Diagnostics
Teresa Órpez-Zafra, Jose Pavía, Isaac Hurtado-Guerrero, Maria J Pinto-Medel, Jose Luis Rodriguez Bada, Patricia Urbaneja, Margarita Suardíaz, Luisa M Villar, Manuel Comabella, Xavier Montalban, Jose C Alvarez-Cermeño, Laura Leyva, Óscar Fernández, Begoña Oliver-Martos
BACKGROUND: The soluble isoform of the interferon-β (IFN-β) receptor (sIFNAR2) could modulate the activity of both endogenous and systemically administered IFN-β. Previously, we described lower serum sIFNAR2 levels in untreated multiple sclerosis (MS) than in healthy controls (HCs). OBJECTIVE: To assess sIFNAR2 levels in a new cohort of MS patients and HCs, as well as in patients with clinically isolated syndrome (CIS) and with other inflammatory neurological disorders (OIND) and to assess its ability as a diagnostic biomarker...
September 1, 2016: Multiple Sclerosis: Clinical and Laboratory Research
D Lopez-Martin, J Martinez-Anton
INTRODUCTION: In children, the most common form of optic neuritis usually occurs after an infectious disease with papilledema, usually bilateral and has a good prognosis. Conversion to multiple sclerosis is low. AIM: To present clinical and laboratory case of optic neuritis in pediatrics features. PATIENTS AND METHODS: Seventeen clinical cases of optic neuritis in children and young people aged 4-14 years, referred from 2000 to 2015 were analyzed...
August 1, 2016: Revista de Neurologia
Hansotto Reiber
The analysis of intrathecal IgG, IgA and IgM synthesis in cerebrospinal fluid (CSF) and evaluation in combined quotient diagrams provides disease-related patterns. The compilation with complementary parameters (barrier function, i.e., CSF flow rate, cytology, lactate, antibodies) in a cumulative CSF data report allows a knowledge-based interpretation and provides analytical and medical plausibility for the quality assessment in CSF laboratories. The diagnostic relevance is described for neurological and psychiatric diseases, for which CSF analysis can't be replaced by other diagnostic methods without loss of information...
April 2016: Arquivos de Neuro-psiquiatria
G S Makshakov, S V Lapin, E P Evdoshenko
Multiple sclerosis (MS) is a demyelinating disease of the central nervous system of probable autoimmune origin. In this review of literature, the authors present a constantly broadening list of potential antigens, including myelin and non-myelin structures, that cause the autoimmune reaction. Determination of antibodies to any antigen has not sufficient specificity and sensitivity for the use in routine laboratory practice. Oligoclonal immunoglobulins determined with isoelectric focusing (IEF) technique are currently considered as the main immunological MS markers...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
A Sebastian Lopez-Chiriboga, Lars Komorowski, Tania Kümpfel, Christian Probst, Shannon R Hinson, Sean J Pittock, Andrew McKeon
OBJECTIVE: To describe retrospectively the clinical associations of immunoglobulin G (IgG) targeting metabotropic glutamate receptor 1 (mGluR1-IgG). METHODS: Specimens of 9 patients evaluated on a service basis in the Mayo Clinic Neuroimmunology Laboratory by tissue-based immunofluorescence assay (IFA) yielded a robust, synaptic immunostaining pattern consistent with mGluR1-IgG (serum, 9; CSF, 2 available). Transfected HEK293 cell-based assay (CBA) confirmed mGluR1 specificity in all 11 specimens...
March 15, 2016: Neurology
Yana Motuzova, Alessia Di Sapio, Marco Capobianco, Arianna Sala, Fabiana Marnetto, Simona Malucchi, Antonio Bertolotto
INTRODUCTION: Tumor necrosis factor-α (TNF-α) blocking agents may be associated with neurological adverse events, including demyelinating syndromes, that can be difficult to differentiate from multiple sclerosis (MS) and clinically isolated syndrome (CIS) as neither the clinical nor laboratory distinctive features have been reported. Usually clinicians mainly examine the diagnostic value of immunoglobulin G oligoclonal bands underestimating the value of other cerebrospinal fluid (CSF) parameters (such as CSF cytology)...
June 2015: Neurology and Therapy
Maciej Juryńczyk, Brian Weinshenker, Gulsen Akman-Demir, Nasrin Asgari, David Barnes, Mike Boggild, Abhijit Chaudhuri, Marie D'hooghe, Nikos Evangelou, Ruth Geraldes, Zsolt Illes, Anu Jacob, Ho Jin Kim, Ingo Kleiter, Michael Levy, Romain Marignier, Christopher McGuigan, Katy Murray, Ichiro Nakashima, Lekha Pandit, Friedemann Paul, Sean Pittock, Krzysztof Selmaj, Jérôme de Sèze, Aksel Siva, Radu Tanasescu, Sandra Vukusic, Dean Wingerchuk, Damian Wren, Isabel Leite, Jacqueline Palace
Distinguishing aquaporin-4 IgG(AQP4-IgG)-negative neuromyelitis optica spectrum disorders (NMOSD) from opticospinal predominant multiple sclerosis (MS) is a clinical challenge with important treatment implications. The objective of the study was to examine whether expert clinicians diagnose and treat NMO/MS overlapping patients in a similar way. 12 AQP4-IgG-negative patients were selected to cover the range of clinical scenarios encountered in an NMO clinic. 27 NMO and MS experts reviewed their clinical vignettes, including relevant imaging and laboratory tests...
January 2016: Journal of Neurology
Gulsen Akman-Demir, Melike Mutlu, Asli Kiyat-Atamer, Erkingul Shugaiv, Murat Kurtuncu, Ilknur Tugal-Tutkun, Erdem Tuzun, Mefkure Eraksoy, Sara Bahar
OBJECTIVES: Behçet's disease (BD) is a systemic auto-inflammatory disorder of unknown cause, which may affect the central nervous system in around 5% of the patients [neuro-BD (NBD)], usually causing large lesions encompassing brainstem, diencephalon and basal ganglia regions. Occasionally NBD patients present with white matter lesions necessitating differential diagnosis from multiple sclerosis (MS). In this study, the efficacy of Barkhof criteria was tested in diagnostic differentiation of NBD and MS...
November 2015: Clinical and Experimental Rheumatology
Joanna Przybek, Inga Gniatkowska, Dagmara Mirowska-Guzel, Anna Członkowska
Multiple sclerosis is a chronic demyelinating disease of the central nervous system that occurs primarily in young adults. There is no single diagnostic test to recognize the disease. The diagnostic criteria, based on clinical examination and laboratory tests, have changed considerably over time. The first guidelines involved only the results of the patient's neurological examination. The diagnostic criteria developed by Poser in 1983 were based largely on the results of additional tests, including visual evoked potentials and analysis of cerebrospinal fluid...
2015: Neurologia i Neurochirurgia Polska
Regina Maria Papais-Alvarenga, Claudia Cristina Ferreira Vasconcelos, Adriana Carra, Ibis Soto de Castillo, Sara Florentin, Fernando Hamuy Diaz de Bedoya, Raul Mandler, Luiza Campanella de Siervi, Maria Lúcia Vellutini Pimentel, Marina Papais Alvarenga, Marcos Papais Alvarenga, Anderson Kuntz Grzesiuk, Ana Beatriz Calmon Gama Pereira, Antonio Pereira Gomes Neto, Carolina Velasquez, Carlos Soublette, Cynthia Veronica Fleitas, Denise Sisteroli Diniz, Elizabeth Armas, Elizabeth Batista, Freda Hernandez, Fernanda Ferreira Chaves da Costa Pereira, Heloise Helena Siqueira, Hideraldo Cabeça, Jose Sanchez, Joseph Bruno Bidin Brooks, Marcus Vinicius Gonçalves, Maria Cristina Del Negro Barroso, Maria Elena Ravelo, Maria Carlota Castillo, Maria Lúcia Brito Ferreira, Maria Sheila Guimarães Rocha, Monica Koncke Fiuza Parolin, Omaira Molina, Patricia Beatriz Christino Marinho, Paulo Pereira Christo, Renata Brant de Souza, Silvio Pessanha Neto, Solange Maria das Graças Camargo, Suzana Costa Machado, Vanderson Carvalho Neri, Yara Dadalti Fragoso, Helcio Alvarenga, Luiz Claudio Santos Thuler
The idiopathic inflammatory demyelinating disease (IIDD) spectrum has been investigated among different populations, and the results have indicated a low relative frequency of neuromyelitis optica (NMO) among multiple sclerosis (MS) cases in whites (1.2%-1.5%), increasing in Mestizos (8%) and Africans (15.4%-27.5%) living in areas of low MS prevalence. South America (SA) was colonized by Europeans from the Iberian Peninsula, and their miscegenation with natives and Africans slaves resulted in significant racial mixing...
2015: PloS One
Wu Yun, Zhang Weihua, Ren Xiaotun, Li Jiuwei, Yang Xinying, Lyu Junlan, Ding Changhong, Chen Chunhong, Ren Haitao, Cui Liying, Fang Fang
OBJECTIVE: To analyze the clinical characteristics of pediatric neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorders (NMOSD). METHOD: A retrospective analysis was performed evaluating clinical and laboratory characteristics of ten NMO and NMOSD children who were seen in our hospital from December 2010 to May 2014. Median age at onset was 8.9 years (range 0.8-13.8 years). Seven cases were female and three were male. Median disease duration was 1...
April 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Sushmita Sinha, Michael P Crawford, Sterling B Ortega, Nitin J Karandikar
The immune system plays a major pathological and regulatory role in multiple sclerosis (MS) and, therefore, is a focus of extensive research. Animal models of MS have been crucial in understanding the pathological processes in MS and developing certain treatments, however, all crucial aspects of the human disease may not be appropriately modeled. With the exception of detecting oligoclonal bands and IgG synthesis in cerebrospinal fluids of MS patients, there has not been major progress in the development of immunologic tests that can be used for diagnosis of MS...
January 2015: Journal of Multiple Sclerosis
İlknur Erol, Tülin Savaş, Sevda Şekerci, Nalan Yazıcı, Ayşe Erbay, Şenay Demir, Semra Saygı, Özlem Alkan
AIM: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. MATERIALS AND METHOD: Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies...
March 2015: Türk Pediatri Arşivi
B Yamout, R Alroughani, M Al-Jumah, R Goueider, M Dahdaleh, J Inshasi, S Hashem, I Alsharoqi, M Sahraian, S Khoury, Z Alkawi, S Koussa, M Zakaria, J Al Khaburi, T Alsaadi, S Bohlega
With evolving diagnostic criteria and the advent of new oral and parenteral therapies for MS, most current diagnostic and treatment algorithms need re-evaluation and updating. The diagnosis of MS relies on incorporating clinical and paraclinical findings to prove dissemination in space and in time, and exclude alternative diseases that can explain the findings at hand. The differential diagnostic workup should be guided by clinical and laboratory red flags to avoid unnecessary tests. Appropriate multiple sclerosis (MS) therapy selection is critical to maximize patient benefit...
2015: Current Medical Research and Opinion
Bassem Yamout
With evolving diagnostic criteria and the advent of new oral and parenteral therapies for MS, most current diagnostic and treatment algorithms need re-evaluation and updating. The purpose of the revised MENACTRIMS guidelines is to provide actual recommendations and algorithms on diagnosis and treatment of MS based on scientific evidence and clinical experience. The diagnosis of MS relies on incorporating clinical and paraclinical findings to prove dissemination in space and in time, and exclude alternative diseases that can explain the findings at hand...
November 2014: Multiple Sclerosis and related Disorders
Güneş Altıokka-Uzun, Erdem Tüzün, Esme Ekizoğlu, Canan Ulusoy, Sibel Yentür, Murat Kürtüncü, Güher Saruhan-Direskeneli, Betül Baykan
OBJECTIVES: The pathogenesis of idiopathic intracranial hypertension (IIH) is currently unknown and there are speculations about the contribution of some immunologic factors. The aim of this study is to investigate the presence of oligoclonal bands (OCBs) and cerebrospinal fluid (CSF) and/or serum cytokine levels in patients with IIH. METHODS: Patients fulfilling revised diagnostic criteria for IIH were included. Their demographic, clinical, ophthalmologic and laboratory features were examined...
November 2015: Cephalalgia: An International Journal of Headache
Anthea Mariani, Manuela Marsili, Manuela Nozzi, Raffaella Faricelli, Francesco Chiarelli, Luciana Breda
In most childhood rheumatic diseases, specific diagnostic markers are not yet available. Therefore, a major emphasis in medical research today is directed to the discovery of new inflammation molecules, like calprotectin. Calprotectin (MRP8/MRP14) is a complex of calcium- and zinc-binding proteins that belong to the S100 protein family. This protein is directly released by leukocytes during the interaction with inflammatory activated endothelium at the site of inflammation. Increased plasma calprotectin levels have been found in inflammatory chronic diseases such as rheumatoid arthritis (RA), juvenile idiopathic arthritis (JIA), inflammatory bowel diseases (IBD), multiple sclerosis, cystic fibrosis and systemic lupus erythematosus (SLE)...
January 2015: Clinical and Experimental Rheumatology
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